SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS199843173 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS199843296 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS199843655 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS199844062 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS199844346 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS199844366 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCNT-related disorder
RS199844384 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS199844454 SP110 Health Risk Pathogenic/Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis
RS199845027 CYP19A1 Health Risk Conflicting classifications of pathogenicity Aromatase deficiency, Aromatase excess syndrome
RS199845488 SP110 Health Risk Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS199845615 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS199845695 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS199845994 FAN1 Health Risk Pathogenic/Likely pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS199846198 RELA Health Risk Conflicting classifications of pathogenicity —
RS199846284 ASXL1 Health Risk Pathogenic —
RS199846767 SON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199846937 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL9A3-related disorder
RS199846967 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS199847072 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199847432 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS199847935 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS199847974 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS199847983 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS199848479 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS199848546 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS199848801 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Bilateral sensorineural hearing impairment
RS199849117 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS199849767 CNNM2 Health Risk Conflicting classifications of pathogenicity —
RS199849785 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS199850214 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS199850417 CFAP251 Health Risk Conflicting classifications of pathogenicity —
RS199850507 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DLL1-related disorder
RS199850826 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Episodic ataxia type 2
RS199850926 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199851177 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS199851839 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS199851990 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity —
RS199852015 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS199852092 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Familial infantile myoclonic epilepsy
RS199852690 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1
RS199852825 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS199852910 PYROXD1 Health Risk Conflicting classifications of pathogenicity —
RS199852936 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS199853307 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS199853331 SYNE4 Health Risk Conflicting classifications of pathogenicity SYNE4-related disorder, SYNE4-related disorder
RS199853422 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS199853617 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199853721 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS199853947 TNR Health Risk Pathogenic Neurodevelopmental disorder, nonprogressive
RS199854074 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS199854336 BLNK Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 4, autosomal recessive
RS199854790 PREPL Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS199854797 CPS1 Health Risk Likely pathogenic —
RS199854846 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS199855270 OTOGL Health Risk Conflicting classifications of pathogenicity OTOGL-related disorder, Inborn genetic diseases
RS199855658 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS199856287 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness
RS199856777 DZIP1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199856844 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS199857139 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, ANKRD26-related disorder
RS199857416 FRMD7 Health Risk Conflicting classifications of pathogenicity Nystagmus 1, congenital
RS199857597 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS199857861 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS199857997 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, LYST-related disorder
RS199858063 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS199858278 SPECC1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199858437 POLR1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Leukodystrophy
RS199858487 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS199858933 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS199859104 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS199859740 MYH7B Health Risk Conflicting classifications of pathogenicity —
RS199859986 MYH6 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 14
RS199860277 ELOVL4 Health Risk Conflicting classifications of pathogenicity ELOVL4-related disorder, ELOVL4-related disorder
RS199860580 MED12 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FG syndrome
RS199860642 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS199860789 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS199860952 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199861310 CTC1 Health Risk Likely pathogenic Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS199861426 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS199861496 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS199861986 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Charcot-Marie-Tooth disease
RS199862050 RARS2 Health Risk Pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6
RS199862273 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS199862338 MYH7 Health Risk Likely pathogenic —
RS199862517 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, MC4R-related disorder
RS199862615 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS199862790 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199862937 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Exostoses
RS199863034 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS199863486 TELO2 Health Risk Conflicting classifications of pathogenicity TELO2-related intellectual disability-neurodevelopmental disorder, Inborn genetic diseases
RS199863563 FARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14, Hereditary spastic paraplegia 77
RS199863621 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS199863781 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS199864090 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS199864153 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS199864231 SLC5A7 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS199864376 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS199864860 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS199865073 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199865600 KY Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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